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Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4 Myasthenia

IMPORTANCE: Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy. OBJECTIVE: To characterize clinical, structural, electrophysiologic, and genetic fea...

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Detalhes bibliográficos
Publicado no:JAMA Neurol
Main Authors: Selcen, Duygu, Ohkawara, Bisei, Shen, Xin-Ming, McEvoy, Kathleen, Ohno, Kinji, Engel, Andrew G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4532561/
https://ncbi.nlm.nih.gov/pubmed/26052878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2015.0853
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